annual 2011 report NATIONAL MPS SOCIETY MISSION
The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.
MPS CLASSIFICATIONS
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
Syndrome Enzyme Deficiency MPS I Hurler, Scheie, Hurler-Scheie a-L-Iduronidase MPS II Hunter Iduronate sulfatase MPS III A Sanfilippo A Heparan N-sulfatase MPS III B Sanfilippo B a-N-Acetylglucosaminidase MPS III C Sanfilippo C Acetyl CoA: a-glycosaminide acetyltransferase MPS III D Sanfilippo D N-Acetylglucosamine 6-sulfatase MPS IV A Morquio A Galactose 6-sulfatase MPS IV B Morquio B bGalactosidase MPS VI Maroteaux-Lamy N-Acetylgalactosamine 4-sulfatase (arylsulfatase B) MPS VII Sly b-Glucuronidase MPS IX Hyaluronidase ML II/III I-Cell, Pseudo-Hurler N-acetylglucosamine-1-polydystrophy phosphotransferase
National MPS Society PO Box 14686 / Durham, NC 27709-4686 t: 877.MPS.1001 / p: 919.806.0101 / f: 919.806.2055 e-mail: [email protected] / web: www.mpssociety.org collaboration 01
WHEN WE THINK ABOUT shows joint commitment to our updates, in addition to mentoring COLLABORATION, the focus goal to cure MPS and related new MPS organizations, provides of this year’s Annual Report, diseases. We are grateful to our equality of knowledge globally we visualize the National MPS research funding collaborations among individuals with MPS. Society as the hub of a large with the International Society We are grateful for these many wheel with the spokes our many for Mannosidosis and Related and varied collaborations, but are stakeholders. Over the years we Diseases, the Ryan Foundation, also mindful of the collaborations have developed and nurtured the Caterina Marcus Foundation, with our members and donors relationships with individuals, Insieme per Gabriel, Ben’s Dream through fundraisers, family support companies and organizations—our Foundation and the Children’s programs and our new Planned many stakeholders. Through the Medical Research Foundation. Giving program. The stories you support of this large community we The Society led the development will read in this Annual Report have grown and developed many of the Lysosomal Storage Disease about their interaction with the successful programs. Research Consortium, a research National MPS Society are uplifting initiative between lysosomal disease Our earliest collaborators were the and reinforce their commitment to advocacy groups and the National pharmaceutical companies that follow our mission. Institutes of Health (NIH), to developed treatments critical to fund translational research. In Thank you for your support and the long-term health of individuals recent years we have been an active collaboration with the Society. ! with MPS. Thanks to the generosity participant in the Lysosomal Disease of BioMarin, Genzyme and Shire Network, including providing HGT the Society added staff research support to complement which enabled the growth of PRESIDENT their NIH funding. our educational, awareness and family support programs. Our Additional collaborations developed collaboration with the companies by both our Legislative Committee EXECUTIVE DIRECTOR provide access to our members for and our individual members with patient surveys and advisory boards, legislative staffers have led to patient education materials, and our awareness about the National MPS ongoing Join the Search awareness Society among our elected officials Steve Holland program. in Washington, DC. The work of the Society in Washington has resulted Other collaborators include in increased funding to the NIH, Barbara Wedehase family foundations and other rare support of policies affecting our disease organizations that allow members, and recognition of our our research dollars to extend annual MPS Awareness Day. further through partnership grants. Recipients of a partnership The Society is a leader among grant appreciate that the Society is the International MPS Network, working together with foundations bringing together our sister MPS and organizations, because it organizations. Sharing research
PICTURED ON THE COVER Texas MPS Regional Gathering, Annabelle Bozarth (MPS IV) and Aidan Carter (MPS II) F AMILY S U PPOR T COMMITTEE 02 supporting courageous families
“ My son, Nick, received The Family Support Committee strives to meet the developing needs of scholarship funding from individuals and families affected by MPS and related diseases. In 2011 the Family Assistance Program expanded. Since the program’s inception the Family Assistance more than $485,000 has been awarded for funding such items as medical Program. This has helped goods, continuing education and conference scholarships. As the program lessen the burden of having continues to grow additional opportunities of support for our families to pay for college. The becomes available. scholarship is just another s 3UPPORTED THE MEMBERSHIP TO ATTEND THE TH !NNUAL &AMILY